Canonical Allele Identifier: CA18010871
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1257866
ClinVar RCV Id: RCV001665829
dbSNP Id: rs72639211
gnomAD v2: 1-11907567-C-T
gnomAD v3: 1-11847510-C-T
gnomAD v4: 1-11847510-C-T
MyVariant Identifiers: chr1:g.11907567C>T (hg19) chr1:g.11847510C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847510C>T , CM000663.2:g.11847510C>T GRCh38
NC_000001.10:g.11907567C>T , CM000663.1:g.11907567C>T GRCh37
NC_000001.9:g.11830154C>T NCBI36
NG_012926.1:g.5274G>A , LRG_751:g.5274G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-67C>T (CLCN6) ENSP00000496938.1:n.*1962-67C>T
ENST00000446542.5:n.858C>T (NPPA-AS1)
ENST00000376476.1:c.-27-71G>A (NPPA) ENSP00000365659.1:n.-27-71G>A
ENST00000376480.7:c.123+52G>A (NPPA) MANE Select ENSP00000365663.3:n.123+52G>A
ENST00000610706.1:c.123+52G>A (NPPA) ENSP00000483195.1:n.123+52G>A
NM_006172.3:c.123+52G>A , LRG_751t1:c.123+52G>A (NPPA) NP_006163.1:n.123+52G>A
NR_037806.1:n.1556C>T (NPPA-AS1)
NM_006172.4:c.123+52G>A (NPPA) MANE Select NP_006163.1:n.123+52G>A
Search 100 bp 5'
Search 100 bp 3'